Canonical Allele Identifier: CA392862054

Gene: MTFMT

Linked Data

• dbSNP Id: rs1192260922
• gnomAD v2: 15-65321764-A-G
• gnomAD v4: 15-65029426-A-G
• MyVariant Identifiers: chr15:g.65321764A>G (hg19) ; chr15:g.65029426A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029426A>G , CM000677.2:g.65029426A>G	GRCh38
NC_000015.9:g.65321764A>G , CM000677.1:g.65321764A>G	GRCh37
NC_000015.8:g.63108817A>G	NCBI36
NG_029184.1:g.5214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.188T>C MANE Select	ENSP00000220058.4:p.Leu63Pro
ENST00000220058.8:c.188T>C	ENSP00000220058.4:p.Leu63Pro
ENST00000543678.1:c.188T>C	ENSP00000443754.1:p.Leu63Pro
ENST00000558460.5:c.188T>C	ENSP00000452646.1:p.Leu63Pro
ENST00000558614.1:n.149T>C
ENST00000559633.1:n.107T>C
ENST00000560717.5:c.173T>C	ENSP00000457257.1:p.Leu58Pro
NM_139242.3:c.188T>C	NP_640335.2:p.Leu63Pro
XM_005254158.5:c.188T>C	XP_005254215.2:p.Leu63Pro
XR_001751081.1:n.203T>C
NM_139242.4:c.188T>C MANE Select	NP_640335.2:p.Leu63Pro